title: Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases.
abstract: This is a report of seven new cases of microcephaly with chorioretinopathy. Three cases were sporadic and four were dominant: a father and son, and a father and daughter. Their ophthalmological, neurological, and systemic findings are discussed as are the genetics of the syndrome. Chorioretinopathy with characteristic punched-out lesions was observed in both entities. Body height emerges as a possible distinguishing feature between the dominant and recessive forms. In addition, locomotor disturbances are more frequently seen in patients with the recessive form.
authors.affiliation: Bartiméus Institute for Visually Handicapped Children, Zeist, The Netherlands.
authors.forename: M M
authors.initials: MM
authors.lastname: van Genderen
authors.forename: J
authors.initials: J
authors.lastname: Schuil
authors.forename: F M
authors.initials: FM
authors.lastname: Meire
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D015862:Choroid Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D012164:Retinal Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology